×
Entrez Id:
540
Gene Symbol:
ATP7B
ATP7B
Hepatolenticular Degeneration
1.000
GeneticVariation
CLINVAR
Age and Sex but Not ATP7B Genotype Effectively Influence the Clinical Phenotype of Wilson Disease.
30232804
2019
×
Entrez Id:
540
Gene Symbol:
ATP7B
ATP7B
Hepatolenticular Degeneration
1.000
CausalMutation
CLINVAR
The global prevalence of Wilson disease from next-generation sequencing data.
30254379
2019
×
Entrez Id:
540
Gene Symbol:
ATP7B
ATP7B
Hepatolenticular Degeneration
1.000
CausalMutation
CLINVAR
Age and Sex but Not ATP7B Genotype Effectively Influence the Clinical Phenotype of Wilson Disease.
30232804
2019
×
Entrez Id:
540
Gene Symbol:
ATP7B
ATP7B
Hepatolenticular Degeneration
1.000
GeneticVariation
CLINVAR
An MTF1 binding site disrupted by a homozygous variant in the promoter of ATP7B likely causes Wilson Disease.
30087448
2018
×
Entrez Id:
540
Gene Symbol:
ATP7B
ATP7B
Hepatolenticular Degeneration
1.000
CausalMutation
CLINVAR
High genetic carrier frequency of Wilson's disease in France: discrepancies with clinical prevalence.
30097039
2018
×
Entrez Id:
540
Gene Symbol:
ATP7B
ATP7B
Hepatolenticular Degeneration
1.000
CausalMutation
CLINVAR
Identification and characterization of a novel 43-bp deletion mutation of the ATP7B gene in a Chinese patient with Wilson's disease: a case report.
29649982
2018
×
Entrez Id:
540
Gene Symbol:
ATP7B
ATP7B
Hepatolenticular Degeneration
1.000
GeneticVariation
CLINVAR
Identification and characterization of a novel 43-bp deletion mutation of the ATP7B gene in a Chinese patient with Wilson's disease: a case report.
29649982
2018
×
Entrez Id:
540
Gene Symbol:
ATP7B
ATP7B
Hepatolenticular Degeneration
1.000
GeneticVariation
CLINVAR
A special case of recurrent gross hematuria: Answers.
26650869
2017
×
Entrez Id:
540
Gene Symbol:
ATP7B
ATP7B
Hepatolenticular Degeneration
1.000
CausalMutation
CLINVAR
Clinical features and outcome in patients with osseomuscular type of Wilson's disease.
28212618
2017
×
Entrez Id:
540
Gene Symbol:
ATP7B
ATP7B
Hepatolenticular Degeneration
1.000
GeneticVariation
CLINVAR
Spectrum of ATP7B mutations and genotype-phenotype correlation in large-scale Chinese patients with Wilson Disease.
27982432
2017
×
Entrez Id:
540
Gene Symbol:
ATP7B
ATP7B
Hepatolenticular Degeneration
1.000
GeneticVariation
CLINVAR
Clinical features and outcome in patients with osseomuscular type of Wilson's disease.
28212618
2017
×
Entrez Id:
540
Gene Symbol:
ATP7B
ATP7B
Hepatolenticular Degeneration
1.000
CausalMutation
CLINVAR
Spectrum of ATP7B mutations and genotype-phenotype correlation in large-scale Chinese patients with Wilson Disease.
27982432
2017
×
Entrez Id:
540
Gene Symbol:
ATP7B
ATP7B
Hepatolenticular Degeneration
1.000
GeneticVariation
CLINVAR
Quantification of ATP7B Protein in Dried Blood Spots by Peptide Immuno-SRM as a Potential Screen for Wilson's Disease.
27935710
2017
×
Entrez Id:
540
Gene Symbol:
ATP7B
ATP7B
Hepatolenticular Degeneration
1.000
CausalMutation
CLINVAR
Genetic analysis of 55 northern Vietnamese patients with Wilson disease: seven novel mutations in ATP7B.
29321352
2017
×
Entrez Id:
540
Gene Symbol:
ATP7B
ATP7B
Hepatolenticular Degeneration
1.000
GeneticVariation
CLINVAR
Targeted next-generation sequencing of the ATP7B gene for molecular diagnosis of Wilson disease.
26483271
2016
×
Entrez Id:
540
Gene Symbol:
ATP7B
ATP7B
Hepatolenticular Degeneration
1.000
GeneticVariation
CLINVAR
Spectrum and Classification of ATP7B Variants in a Large Cohort of Chinese Patients with Wilson's Disease Guides Genetic Diagnosis.
27022412
2016
×
Entrez Id:
540
Gene Symbol:
ATP7B
ATP7B
Hepatolenticular Degeneration
1.000
GeneticVariation
CLINVAR
Intragenic Deletions in ATP7B as an Unusual Molecular Genetics Mechanism of Wilson's Disease Pathogenesis.
27992490
2016
×
Entrez Id:
540
Gene Symbol:
ATP7B
ATP7B
Hepatolenticular Degeneration
1.000
GeneticVariation
CLINVAR
Mutational analysis of ATP7B in Chinese Wilson disease patients.
27398169
2016
×
Entrez Id:
540
Gene Symbol:
ATP7B
ATP7B
Hepatolenticular Degeneration
1.000
GeneticVariation
CLINVAR
The Challenges of Diagnosing and Following Wilson Disease in the Presence of Proteinuria.
27437191
2016
×
Entrez Id:
540
Gene Symbol:
ATP7B
ATP7B
Hepatolenticular Degeneration
1.000
CausalMutation
CLINVAR
Clinical Use of Next-Generation Sequencing in the Diagnosis of Wilson's Disease.
26819605
2016
×
Entrez Id:
540
Gene Symbol:
ATP7B
ATP7B
Hepatolenticular Degeneration
1.000
CausalMutation
CLINVAR
Four-year follow-up of a Wilson disease pedigree complicated with epilepsy and hypopituitarism: Case report with a literature review.
27930511
2016
×
Entrez Id:
540
Gene Symbol:
ATP7B
ATP7B
Hepatolenticular Degeneration
1.000
CausalMutation
CLINVAR
Targeted next-generation sequencing of the ATP7B gene for molecular diagnosis of Wilson disease.
26483271
2016
×
Entrez Id:
540
Gene Symbol:
ATP7B
ATP7B
Hepatolenticular Degeneration
1.000
GeneticVariation
CLINVAR
Wilson's disease in an adult asymptomatic patient: a potential role for modifying factors of copper metabolism.
26752957
2016
×
Entrez Id:
540
Gene Symbol:
ATP7B
ATP7B
Hepatolenticular Degeneration
1.000
CausalMutation
CLINVAR
Wilson's disease in an adult asymptomatic patient: a potential role for modifying factors of copper metabolism.
26752957
2016
×
Entrez Id:
540
Gene Symbol:
ATP7B
ATP7B
Hepatolenticular Degeneration
1.000
CausalMutation
CLINVAR
Wilson's disease with cognitive impairment and without extrapyramidal signs: improvement of neuropsychological performance and reduction of MRI abnormalities with trientine treatment.
25988284
2016